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Aliases for TBC1D20 Gene

Aliases for TBC1D20 Gene

  • TBC1 Domain Family Member 20 2 3 5
  • C20orf140 3 4
  • Chromosome 20 Open Reading Frame 140 2
  • TBC1 Domain Family, Member 20 2
  • WARBM4 3

External Ids for TBC1D20 Gene

Previous HGNC Symbols for TBC1D20 Gene

  • C20orf140

Previous GeneCards Identifiers for TBC1D20 Gene

  • GC20M000367

Summaries for TBC1D20 Gene

Entrez Gene Summary for TBC1D20 Gene

  • This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBC1D20 Gene

TBC1D20 (TBC1 Domain Family Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include Warburg Micro Syndrome 4 and Warburg Micro Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding.

UniProtKB/Swiss-Prot for TBC1D20 Gene

  • GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Additional gene information for TBC1D20 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D20 Gene

Genomics for TBC1D20 Gene

Regulatory Elements for TBC1D20 Gene

Enhancers for TBC1D20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H000368 2 FANTOM5 Ensembl ENCODE dbSUPER 48.4 +90.0 90033 8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 TBC1D20 TRIB3 CSNK2A1 ENSG00000272874 DEFB129 DEFB126 DEFB125 RBCK1 SRXN1 ENSG00000206797
GH20H000360 1.6 Ensembl ENCODE dbSUPER 36.5 +98.6 98624 7.8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TBC1D20 RBCK1 ENSG00000206797 ACTG1P3 CSNK2A1 C20orf96 SLC52A3 TRIB3 GC20P000385 GC20P000387
GH20H001185 1.3 Ensembl ENCODE 41.2 -724.6 -724598 3.2 HDGF ARNT ARID4B YBX1 DMAP1 YY1 SLC30A9 CBX5 ZNF207 ZNF143 TBC1D20 ACTG1P3 RBCK1 ENSG00000229728 SDCBP2-AS1 TMEM74B ENSG00000274269
GH20H001415 2 FANTOM5 Ensembl ENCODE dbSUPER 25.2 -955.1 -955050 4.4 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF143 FOS SP3 SMARCB1 TBC1D20 SDCBP2 ACTG1P3 NSFL1C FKBP1A SIRPA LOC105372497 GC20M001435
GH20H000323 1.4 ENCODE dbSUPER 35.8 +136.0 136046 7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 TBC1D20 DEFB129 ACTG1P3 ENSG00000272874 DEFB126 DEFB125 ZCCHC3 C20orf96 NRSN2-AS1 NRSN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D20 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133429 553 1601 PKNOX1 ATF1 MLX ARID4B SIN3A ZNF2 YY1 GLIS2 ZNF143 RUNX3

Genomic Locations for TBC1D20 Gene

Genomic Locations for TBC1D20 Gene
27,077 bases
Minus strand

Genomic View for TBC1D20 Gene

Genes around TBC1D20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D20 Gene

Proteins for TBC1D20 Gene

  • Protein details for TBC1D20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    TBC1 domain family member 20
    Protein Accession:
    Secondary Accessions:
    • A8K6I3
    • B9A6M1
    • Q5JWQ7
    • Q6ZSY8
    • Q96NE1
    • Q9BYM7
    • Q9H140

    Protein attributes for TBC1D20 Gene

    403 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    • Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.

    Three dimensional structures from OCA and Proteopedia for TBC1D20 Gene

    Alternative splice isoforms for TBC1D20 Gene


neXtProt entry for TBC1D20 Gene

Post-translational modifications for TBC1D20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D20 Gene

No data available for DME Specific Peptides for TBC1D20 Gene

Domains & Families for TBC1D20 Gene

Gene Families for TBC1D20 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TBC1D20 Gene


Suggested Antigen Peptide Sequences for TBC1D20 Gene

Graphical View of Domain Structure for InterPro Entry



  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
genes like me logo Genes that share domains with TBC1D20: view

Function for TBC1D20 Gene

Molecular function for TBC1D20 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Phenotypes From GWAS Catalog for TBC1D20 Gene

Gene Ontology (GO) - Molecular Function for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA,IEA 17684057
GO:0005515 protein binding IPI 17684057
GO:0017137 Rab GTPase binding IPI 17684057
genes like me logo Genes that share ontologies with TBC1D20: view
genes like me logo Genes that share phenotypes with TBC1D20: view

Human Phenotype Ontology for TBC1D20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D20 Gene

Localization for TBC1D20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D20 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D20 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22491470
GO:0005789 endoplasmic reticulum membrane IDA 17684057
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane IDA 17684057
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBC1D20 Gene

Pathways & Interactions for TBC1D20 Gene

genes like me logo Genes that share pathways with TBC1D20: view

Gene Ontology (GO) - Biological Process for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IMP 21680502
GO:0007030 Golgi organization IMP,IEA 17684057
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for SIGNOR curated interactions for TBC1D20 Gene

Drugs & Compounds for TBC1D20 Gene

No Compound Related Data Available

Transcripts for TBC1D20 Gene

Unigene Clusters for TBC1D20 Gene

TBC1 domain family, member 20:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP7: - - -
SP8: -

Relevant External Links for TBC1D20 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBC1D20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D20 Gene

Protein differential expression in normal tissues from HIPED for TBC1D20 Gene

This gene is overexpressed in Bone (28.2) and Peripheral blood mononuclear cells (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D20 Gene

Protein tissue co-expression partners for TBC1D20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D20 Gene:


SOURCE GeneReport for Unigene cluster for TBC1D20 Gene:


Evidence on tissue expression from TISSUES for TBC1D20 Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • pelvis
  • penis
  • testicle
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TBC1D20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D20 Gene

Orthologs for TBC1D20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D20 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TBC1D20 33 34
  • 99.01 (n)
(Canis familiaris)
Mammalia TBC1D20 33 34
  • 92.8 (n)
(Bos Taurus)
Mammalia TBC1D20 33 34
  • 92.72 (n)
(Mus musculus)
Mammalia Tbc1d20 33 16 34
  • 89.3 (n)
(Rattus norvegicus)
Mammalia Tbc1d20 33
  • 88.89 (n)
(Monodelphis domestica)
Mammalia TBC1D20 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 57 (a)
-- 34
  • 35 (a)
(Gallus gallus)
Aves TBC1D20 33 34
  • 80.38 (n)
(Anolis carolinensis)
Reptilia TBC1D20 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d20.1 33
  • 73.89 (n)
Str.10618 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52691 33
(Danio rerio)
Actinopterygii tbc1d20 33 34
  • 70.61 (n)
zgc63863 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008312 33
  • 54.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17883 33 34
  • 49.88 (n)
(Caenorhabditis elegans)
Secernentea tbc-20 33 34
  • 49.6 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP8 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05272 33
  • 44.1 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp10 33
  • 41.7 (n)
Species where no ortholog for TBC1D20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D20 Gene

Gene Tree for TBC1D20 (if available)
Gene Tree for TBC1D20 (if available)

Paralogs for TBC1D20 Gene

No data available for Paralogs for TBC1D20 Gene

Variants for TBC1D20 Gene

Sequence variations from dbSNP and Humsavar for TBC1D20 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs587777157 Pathogenic 447,946(+) TTTTC(A/G)TCTGA intron-variant, nc-transcript-variant, reference, stop-gained
rs587777158 Pathogenic 445,095(+) CACTT(A/G)TTGGT nc-transcript-variant, reference, stop-gained
rs587777159 Pathogenic 442,028(+) CTCTC(-/TG)TTCCT nc-transcript-variant, reference, frameshift-variant
rs587777160 Pathogenic 440,344(+) CCAAA(C/T)CAGGT nc-transcript-variant, reference, stop-gained
rs141648576 Uncertain significance 438,655(+) GCAGC(C/T)GCTCC nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for TBC1D20 Gene

Variant ID Type Subtype PubMed ID
nsv9774 CNV gain 18304495
nsv585171 CNV loss 21841781
nsv469833 CNV gain 16826518
nsv458842 CNV loss 19166990
nsv1109347 CNV deletion 24896259
nsv1066598 CNV gain 25217958
nsv1056266 CNV gain 25217958
esv3644956 CNV gain 21293372
esv3644953 CNV gain 21293372
esv3644952 CNV gain 21293372
esv3556706 CNV deletion 23714750
esv2677224 CNV deletion 23128226
esv2535181 CNV deletion 19546169
esv1050414 CNV deletion 17803354
dgv4221n100 CNV gain 25217958
dgv4219n100 CNV gain 25217958

Variation tolerance for TBC1D20 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D20 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D20 Gene

Disorders for TBC1D20 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TBC1D20 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
warburg micro syndrome 4
  • micro syndrome 4
warburg micro syndrome
  • micro syndrome
warburg micro syndrome 1
  • micro syndrome
hepatitis c virus
  • hepatitis c virus, response to therapy of
spastic diplegia
  • cerebral palsy
- elite association - COSMIC cancer census association via MalaCards


  • Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:24239381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D20

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TBC1D20: view

No data available for Genatlas for TBC1D20 Gene

Publications for TBC1D20 Gene

  1. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. (PMID: 24239381) Liegel RP … Sidjanin DJ (American journal of human genetics 2013) 3 4 60
  2. Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail. (PMID: 23236136) Gavriljuk K … Gerwert K (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 60
  3. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4 60
  4. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. (PMID: 17901050) Sklan EH … Glenn JS (The Journal of biological chemistry 2007) 2 3 60
  5. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. (PMID: 17686842) Sklan EH … Glenn JS (Journal of virology 2007) 3 4 60

Products for TBC1D20 Gene

Sources for TBC1D20 Gene

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